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PubMed1991

Trisomy 18 in chorionic villus sampling: problems and consequences.

Among 1547 patients undergoing first-trimester prenatal diagnosis, 100 fetal chromosome aberrations were detected. Thirteen of these involved chromosome 18. In two structural abnormalities of chromosome 18, the aberration could be excluded in amniotic fluid cells and two healthy infants were born. Trisomy 18 was not confirmed in amniotic fluid cells in three trisomy 18 mosaics. In eight non-mosaic trisomy 18 first-trimester diagnoses, the diagnosis was excluded by amniotic fluid cells or fetal cultures in four, and confirmed in the remaining four. Diagnosis of chromosome 18 aberrations in the direct preparation should be confirmed in the long-term culture of the chorionic villus sample or by amniotic fluid cultures.

Amniocentesis↗
PubMed1991

Heterochromatin decondensation in chromosomes from chorionic villus samples.

The spontaneous decondensation of constitutive heterochromatic regions of chromosomes 1, 9, 16, and Y has been observed in 46.6 per cent of chorionic villus samples. This type of decondensation is occasionally observed in amniotic fluid cells (9 per cent) and has never been found in fetal lymphocytes. The phenomenon is similar to that described in spermatogonial metaphases, in primary and secondary spermatocytes and in human sperm chromosomes, although decondensation of the heterochromatin of chromosome 15 has never been recorded in chorionic villus samples.

Age Factors↗
PubMed1992

Limb anomalies associated with chorionic villus sampling.

Data on outcome of pregnancy were obtained in 436 (94%) of 463 patients undergoing chorionic villus sampling (CVS) at Humana Hospital-Michael Reese between January 1, 1989 and November 30, 1990. There were 18 elective abortions, 27 fetal and neonatal losses, and 391 surviving infants. Of the 394 fetuses and infants who were adequately evaluated, a total of 13 (3.3%) had major congenital anomalies, including four with transverse limb reduction deformities, three with cleft lip with or without cleft palate, and one each with a nasal encephalocele, large port-wine stain, craniosynostosis, omphalocele with associated defects, ambiguous genitalia, and undescended testes. The limb malformations in the four affected infants were all very similar and were comparable to those described by others in association with CVS. Three of the cases of limb malformations followed transcervical CVS; one followed a transabdominal procedure. The procedures were performed at 9.5, 9.5, 10.5, and 11 weeks' gestation. An adequate sample was obtained with a single attempt in each case. These observations, in conjunction with others in the literature, suggest that there is an increased risk of limb anomalies associated with CVS. A vascular etiology, related to either decreased fetal perfusion or thrombosis of the sampling site with subsequent embolization, is suggested.

Chorionic Villi Sampling↗
PubMed1988

Direct and short-term culture preparation of chorionic villi. Is any one method best?

Chorionic villi from 20 diagnostic cases were prepared for cytogenetic analysis by a direct and two short-term culture methods. No significant differences were found between the methods in the quality and quantity of metaphases obtained. A further study using villi from 20 pre-termination patients indicated an inherent variation in the quality of villi resulting in inconsistent processing and variation in the response of a sample to the methods. This suggests that it would be advantageous to process the villi by more than one method.

Cells, Cultured↗
PubMed1991

First-trimester diagnosis of hypophosphatasia. Importance of gestational age and purity of CV samples.

Prenatal diagnosis of hypophosphatasia was made by alkaline phosphatase (ALP) assay on a chorionic villous sample taken in the first trimester. Very low activities of the LBK isoenzymes indicated an affected fetus. Diagnosis was confirmed at 12 weeks of gestation by measurement of LBK isoenzyme activities in fetal bone tissue. In control chorionic villous samples an inverse relation was observed between LBK and placental ALP percentage during gestational age. High LBK ALP activities are observed in decidual tissue. Chorionic villous tissue must not be sampled after 12 weeks of gestation and decidual tissue must be excluded from the sample.

Alkaline Phosphatase↗
PubMed1993

beta-Glucuronidase deficiency: identification of an affected fetus with simultaneous sampling of chorionic villus and amniotic fluid.

Four pregnancies at risk for mucopolysaccharidosis VII were monitored by chorionic villus sampling obtained in the first or second trimester of gestation. One fetus showed reduced beta-glucuronidase activity following simultaneous sampling of chorionic villus and amniotic fluid at 17 weeks of gestation. The pregnancy was terminated. Subsequent assay of beta-glucuronidase activity in the fetal tissues was consistent with a diagnosis of mucopolysaccharidosis VII, thus confirming that chorionic villus samples provide useful information for diagnosis of this condition.

Adult↗
PubMed1992

Chorionic villus sampling: evaluation of obstetric performance.

Chorionic villus sampling is frequently utilised in the Nottingham region as a means of early prenatal diagnosis of genetic problems. Its relative safety in the early antenatal period is well established but there has been some concern that perinatal mortality may be greater in the chorionic villus sampling group as compared to amniocentesis. We have in response studied our own data and report the obstetric outcome in 144 cases where the pregnancy has progressed beyond 28 weeks gestation. We have selected a procedure free control group matched for parity. We have found no significant difference in the perinatal outcome and obstetric performance and conclude that at this juncture we should continue to offer our services as chorionic villus sampling offers significant advantages in the first trimester over amniocentesis.

Adult↗
PubMed1993

X chromosome inactivation and the diagnosis of X linked disease in females.

In studies of female patients with suspected deficiency of the E1 alpha subunit of the pyruvate dehydrogenase complex, we have found that X inactivation ratios of 80:20 or greater occur at sufficient frequency in cultured fibroblasts to make exclusion of the diagnosis impossible in about 25% of cases. Pyruvate dehydrogenase E1 alpha subunit deficiency is an X linked inborn error of metabolism which is well defined biochemically and is unusual in that most heterozygous females manifest the condition. The diagnosis is usually established by measurement of enzyme activity and the level of immunoreactive protein and these analyses are most commonly performed on cultured fibroblasts from the patients. Skewed patterns of X chromosome inactivation make it impossible to exclude the diagnosis if the normal X chromosome is expressed in the majority of cells. While most of the observed variation appears to be the expected consequence of random X inactivation, it may be further exaggerated by sampling and subsequent expansion of the cells for analysis.

Cells, Cultured↗
PubMed1989

Multicentre randomised clinical trial of chorion villus sampling and amniocentesis. First report. Canadian Collaborative CVS-Amniocentesis Clinical Trial Group.

2787 women who were aged 35 years or more at expected date of delivery were randomised to chorionic villus sampling (CVS) at 9-12 weeks gestation or amniocentesis at 15-17 weeks for the detection of a chromosomal abnormality in the fetus. 396 women were excluded after randomisation because of a non-viable fetus, a multiple pregnancy, or infection or because the pregnancy was too far advanced (more than 12 completed weeks). Among all women eligible at the time of the first study procedure there were 89/1169 (7.6%, 95% confidence interval [CI] 6.2-9.3%) total losses (spontaneous and induced abortions and late losses) in the CVS group and 82/1174 (7.0%, CI 5.6-8.6%) in the amniocentesis group for an excess of 0.6% for those women undergoing CVS, with a tendency to later losses in the CVS group. Approximate 95% CIs indicate that this difference is most unlikely to be greater than 2.7%. Mean birthweights for each week of gestation were similar in both groups, with no evidence of excess small-for-gestational age babies in the CVS group. The proportion of preterm births were similar in both groups. Perinatal mortality was greater in the CVS group, the greatest imbalance being beyond 28 weeks. Preliminary analysis has not disclosed an obvious recurrent event in the CVS group which might explain a cause-and-effect relationship for these late fetal losses. There is no evidence of any excess intrauterine growth retardation babies in the CVS group. Maternal morbidity was similar in both groups. 103/1037 (9.9%) women eligible for CVS had a further amniocentesis; 32 of these second procedures were needed to complete the cytogenetic diagnosis. More problems such as confined mosaicism and maternal cell contamination occurred in the interpretation of the CVS samples, but these were clarified by amniocentesis when appropriate.

Abortion, Induced↗
PubMed1993

Discrepancy in mosaic findings between chorionic villi and amniocytes: a diagnostic dilemma involving 45,X, 46,XY, and 47,XYY cell lines.

Discrepancies between cytogenetic findings in chorionic villi (CV) and fetal tissue have been reported. Several embryogenic models have been proposed to explain such discrepancies. We describe a case in which analysis of the direct preparation showed 24% 45,X and 76% 46,XY, with 43% 45,X and 57% 46,XY cells in cultured villi. Amniocentesis results disclosed 97% 46,XY and 3% 47,XYY. No 45,X cells were found in cultured amniocytes. These findings suggest that nondisjunction occurred early in postzygotic cleavage resulting in 3 cell lines. It is postulated that through selection, the less viable 45,X cells died out among those destined to become fetus proper but persisted among the cytotrophoblast and extraembryonic mesoderm cells. While there is probably selection against all aneuploid cell lines, 47,XYY cells are more likely to survive in the fetus. An explanation for the lack of 47,XYY cells in the CV might be simply that the tissue sampled was not representative of the cytogenetic make up of the entire placenta.

Adult↗
PubMed2001

[Amniocentesis and chorionic villi biopsy. A 10-year material].

PURPOSE: The aim of the study was to evaluate the prenatal diagnosis at a secondary referral hospital. METHOD: A retrospective study was carried out on 1752 women examined by amniocentesis (AC) (n = 1037) or chorion villus sampling (CVS) (n = 715) at Randers Centralsygehus from 1 April 1987 to 31 December 1996. RESULTS: A cytogenetic diagnosis was made in 99.8% of the AC group and 99.4% of the CVS group. Complications, recorded as either spontaneous abortion, bleeding/threatening abortion, pain/contractions or amniotic fluid leakage, were seen in 1.9%, 3.3%, 2.9%, and 2.3% after AC and 1.8%, 7.3%, 3.4%, and 0% after CVS. There were significantly more re-examinations after CVS when the procedure was carried out by less experienced operators (p < 0.003), whereas experience did not influence the number of re-examinations after AC (p = 0.8). CONCLUSION: The frequency of complications during prenatal procedures performed over a period of ten years was comparable with that reported in other studies. It is expedient and safe to perform prenatal examinations at a secondary referral hospital where currently 200 procedures are performed each year.

Adult↗